Charcot-Marie-tooth disease

Abstract

Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of diseases that affect the peripheral nervous system. CMT is characterized by degeneration or abnormal development of the peripheral nerve and is transmitted with different genetic patterns. In most cases, the disease starts in infancy. Its symptoms, among others, are an awkward gait; muscular atrophy of the 4 extremities, particularly distally; and foot deformities, such as cavus foot. People with CMT have an altered gait; most have a high stepping gait and frequently trip or fall. CMT disease can be classified according to the pattern of inheritance (autosomal dominant, autosomal recessive, or X-linked), electrophysiological findings (evidence of demyelination or axonal degeneration), or the mutated gene that causes the disease. This classification of CMT is complex and continually updated as new genes and mutations are found. CMT should be suspected in any patient with cavus foot, particularly if other members of the family have been diagnosed with the disease. Treatment decisions must be individualized and based on a clear history, careful examination, and well-defined patient goals.